Writing | Du Mengyang
Picture | Derived from the Internet
Review | Bao Shihua
The patient is 21 years old, and the gender of the society is female, and came to the hospital for consultation because of "found chromosomal abnormalities and amenorrhea".
Current medical history: The patient is 152cm tall, weighs 44 kg, and BMI 19kg/m2. I am a full -month childbirth.At the age of 10, due to short body, I was a visited hospital. After examination, I found that the chromosome nucleus was male nuclear (46, xy). The adolescent vulva development was basically normal, and the breast development was not good, but the menstrual periods are now around.I failed to continue treatment when I was young.The artificial cycle of estrogen hormone is used for 1 cycle to be transferred once, the menstrual period is 5 days, and 2-3 sanitary napkins per day. The menstrual volume is normal.Now it is required to further diagnose and treat our hospital.
Past history: tonsil resection, deny chronic medical history, and deny the history of drug allergies.Patients’ parents have no history of marriage, no family history, and their mother has no history of medication during pregnancy.
Physical examination: female body and tone, no beard and throat, double breasts develop mild development.
Gynecological examination: vulva: women, sparse pubic hair, Tanner stages in stage III, clitoris is not large, pussy is full, and vaginal mouths are visible.Museum: Anal check: Former position, the palpation is unclear.The attachment is not abnormal.The bilateral groin is not cricket and lump.
Peripular blood chromosome nuclear analysis-400 with: 46, xy;
Pelvic ultrasound: 1. Small uterine 2. The left side of the pelvic cavity, the source of the attachment is possible, other sources are not except;
Radiation diagnostic report: The benign cyst left on the left side of the pelvic cavity comes from the positives of the left side, and the uterus is small;
Sex hormone:
Folkytopenia: 28.73iU/L
Promote lutein production: 7.64IU/L
Liner: 8.71ng/ml
Esolis meterol: <11.80pg/ml
Performatone: 0.31ng/ml
Testosterone: 0.16ng/ml ↓ (reference value: 0.09-0.48ng/ml)
Sulfate dehydrogenucleone: 4.30umol/L
Wandolic estradiol: 0.04ng/ml
Anti -mulole tube hormone: 0.02ng/ml ↓
46, XY simplicity gonad development syndrome (SWYER syndrome)
The genetic gender of "her" was originally male: 46, xy
Chromosome is a DNA fragment with genetic information.
There are 46 human chromosomes, 22 of which are common in men and women, and the other pair is a chromosomal that determines gender. Men and women are different. Men are XY and women are XX.
In the early days of embryos, human gonads were primitive and could develop in both directions of men and women.Y chromosome contains a gender decision zone (SRY). Once the fertilized egg contains Y dyed, it will develop to men. First, the male sex adrenal testicles of men are formed.Men, androgen promptness to develop peridual genitals.
But only Y chromosomes are not enough to make people stand up.
If the testicular and functional defects, or androgen cannot play a normal role, regardless of the genetic gender, the internal reproductive organs will be lacking or incomplete, which will make people have "daughter".
Combined with the auxiliary examination of "her": coffee producer: 28.73iU/L, estradiol: <11.80pg/ml, progesterone: 0.31ng/ml, testosterone: 0.16ng/ml, sulfate dehydroxide:4.30UMOL/L, anti -munchic tubular hormone: 0.02ng/ml ↓ and ultrasound results. It is determined that the male gland of "her" is completely developed in the early stage of the embryo, causing testicular dysfunction.hormone.
The clinical manifestation is the internal and external genitals of naive women, including fallopian tubes, uterus and vagina, and the second sexual development of adolescent women has poor development, pubic hair and axillary hair are scarce, and breasts are not developed.
(Click for larger image)
At present, the clinical consensus points out that any gender development of Y chromosomes has an abnormal gender development, and its developmental adequate gland or atopic testes have a tendency to vulnerable to gonad tumors or malignant changes.
In 1993, a foreign scholar reported that one of the 9 -month Swyer syndrome had a gonad tumor. The earlier, the higher the degree of malignant. Once diagnosed, the gonad should be removed as soon as possible.
Therefore, laparoscopic detection can accurately understand the condition of the internal genitals, and it will help further identify diagnosis.
Seeing during the operation: the uterus is small, the bilateral fallopian tubes are unsatisfactory, and a cystic mass in the left ovary film is about 5*4*3cm.Organization, the size is about 2*2*1cm.
Combining medical history, auxiliary examinations, during surgery, and postoperative pathology, the clinical diagnosis of 46XY simple gonad development syndrome (SWYER syndrome) can be clarified.
46. XY simplicity gonad developmental syndrome patients can receive estrogen hormone cycle replacement treatment after gonad resection, which can be menstruation normally and normal life.
Because there are uterus and vagina, you can live normally.However, there is no ovarian and ovulation. Those with conditions can accept donations of eggs and conceive through IVF. However, premium premiums are currently illegal in China, and there are no relevant reports.
The vast majority of primary amenorrhea is caused by genetic diseases or congenital development defects.
When girls are over 14 years old, the second sexual characteristics (breasts, pubic hair, axillary hair, etc.) are not developed; age is over 16 years old, the second sexual characteristics have developed, menstruation is still in the future, or the second sexual characteristics have developed for more than 2 years.Without menstruation, parents must be paid attention to, and they must take their children to medical examination in time.
Clear the cause as soon as possible, precise treatment, and let the unique girls return to normal life as soon as possible!
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